SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey

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dc.authoridZeliha Görmez / 0000-0001-9519-2647
dc.authorscopusidZeliha Görmez / 26025606000
dc.authorwosidZeliha Görmez / A-9557-2013
dc.contributor.authorYücesan, E.
dc.contributor.authorİşeri, Sibel Aylin Uğur
dc.contributor.authorBilgiç, B.
dc.contributor.authorGörmez, Zeliha
dc.contributor.authorGüngor, B. Bakir
dc.contributor.authorSaraç, A.
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorSağıroğlu, M.
dc.contributor.authorGürvit, H.
dc.contributor.authorHanağası, H.
dc.contributor.authorÖzbek, Uğur
dc.date.accessioned2020-08-30T20:07:58Z
dc.date.available2020-08-30T20:07:58Z
dc.date.issued2017
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Yazılım Mühendisliği Bölümüen_US
dc.description.abstractSYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings. We identified a homozygous variant in SYNE1 (NM_033071.3: c.13086delC; p.His4362GlnfsX2) in all four affected siblings. This variant presented herein has originally been associated with only pure ataxia in a single case. We thus present segregation and phenotypic manifestations of this variant in four affected family members and further extend the pure ataxia phenotype with upper motor neuron involvement and peripheral neuropathy. Our findings in turn established a precise molecular diagnosis in this family, demonstrating the use of WES combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.en_US
dc.description.sponsorshipIstanbul UniversityIstanbul University [ONAP-11021]; Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [BILGEMK030-T439]; Republic of Turkey Ministry of DevelopmentTurkiye Cumhuriyeti Kalkinma Bakanligi [2011 K120020]; Istanbul Development AgencyTurkiye Cumhuriyeti Kalkinma Bakanligi [TR10/15/YNK/0093]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [113S331]en_US
dc.description.sponsorshipThis work was supported by the grants of Scientific Research Projects Coordination Unit of Istanbul University, the Scientific and Technological Research Council of Turkey (TUBITAK), and the Republic of Turkey Ministry of Development with grant reference numbers of ONAP-11021, UEKAE, BILGEMK030-T439, and Infrastructure Grant-2011 K120020, respectively. Biobanking support was given by Istanbul Development Agency (Project Number TR10/15/YNK/0093). EY and OO have been fellows of TUBITAK Project Number 113S331.en_US
dc.identifier.citationYucesan, E., Ugur Iseri, S. A., Bilgic, B., Gormez, Z., Bakir Gungor, B., Sarac, A., … Ozbek, U. (2017). SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. Neurological Sciences, 38(12), 2203–2207. https://doi.org/10.1007/s10072-017-3049-8en_US
dc.identifier.doi10.1007/s10072-017-3049-8en_US
dc.identifier.endpage2207en_US
dc.identifier.issn1590-1874en_US
dc.identifier.issn1590-3478en_US
dc.identifier.issue12en_US
dc.identifier.pmid28687974en_US
dc.identifier.scopus2-s2.0-85022018103en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage2203en_US
dc.identifier.urihttps://doi.org/10.1007/s10072-017-3049-8
dc.identifier.urihttps://hdl.handle.net/20.500.12713/862
dc.identifier.volume38en_US
dc.identifier.wosWOS:000417169100019en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorGörmez, Zelihaen_US
dc.language.isoenen_US
dc.publisherSpringer-Verlag Italia Srlen_US
dc.relation.ispartofNeurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAutosomal Recessive Cerebellar Ataxiaen_US
dc.subjectSyne1en_US
dc.subjectPeripheral Neuropathyen_US
dc.subjectLinkage Analysisen_US
dc.subjectWhole Exome Sequencingen_US
dc.subjectE. Yucesan And S. A.Ugur Iseri Contributed Equally To This Worken_US
dc.titleSYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkeyen_US
dc.typeArticleen_US

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